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Aliases for KLRC2 Gene

Aliases for KLRC2 Gene

  • Killer Cell Lectin Like Receptor C2 2 3 5
  • Killer Cell Lectin-Like Receptor Subfamily C, Member 2 2 3
  • CD159 Antigen-Like Family Member C 3 4
  • NKG2-C-Activating NK Receptor 3 4
  • NK Cell Receptor C 3 4
  • NKG2C 3 4
  • NKG2-C Type II Integral Membrane Protein 3
  • CD159c Antigen 4
  • CD159c 3
  • NKG2-C 3

External Ids for KLRC2 Gene

Previous GeneCards Identifiers for KLRC2 Gene

  • GC12P010266
  • GC12U900034
  • GC12M010484
  • GC12M010474
  • GC12M010583
  • GC12M010690
  • GC12M010719
  • GC12M010782
  • GC12M011019
  • GC12M011306
  • GC12M011540

Summaries for KLRC2 Gene

Entrez Gene Summary for KLRC2 Gene

  • Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLRC2 Gene

KLRC2 (Killer Cell Lectin Like Receptor C2) is a Protein Coding gene. Diseases associated with KLRC2 include Trachoma. Among its related pathways are Allograft rejection and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is ENSG00000255641.

UniProtKB/Swiss-Prot for KLRC2 Gene

  • Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.

Gene Wiki entry for KLRC2 Gene

Additional gene information for KLRC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLRC2 Gene

Genomics for KLRC2 Gene

Regulatory Elements for KLRC2 Gene

Enhancers for KLRC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H010391 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16 +47.5 47517 7 FOXA2 ARID4B FEZF1 ATF7 RUNX3 DEK JUNB TSHZ1 ZNF662 KAT8 KLRA1P KLRK1 TAS2R20 KLRC3 KLRC4 KLRC2 LOC101928100 TAS2R31 TAS2R43 MAGOHB
GH12H010384 1.4 FANTOM5 ENCODE dbSUPER 10.1 +54.9 54862 5 TBP FOXA2 ZSCAN4 FEZF1 ZEB1 GTF3C2 FOS ZNF362 YY2 CEBPB TAS2R19 TAS2R31 KLRA1P TAS2R14 TAS2R10 TAS2R15P MAGOHB TAS2R20 TAS2R43 KLRC3
GH12H010369 0.8 FANTOM5 ENCODE dbSUPER 12.6 +72.2 72229 1 KLRK1 KLRC4 KLRC2 KLRD1 STYK1 KLRC1 KLRC4-KLRK1 KLRC3 LOC101928100 GC12P010386
GH12H010368 0.6 ENCODE dbSUPER 13 +73.4 73410 0 PRDM1 KLRC2 KLRK1 STYK1 KLRC1 LOC101928100 GC12P010386
GH12H010611 1.2 ENCODE 5.6 -171.0 -171046 2 HDGF MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 KLRA1P TAS2R43 ENSG00000256682 SLC25A39P2 LINC02366 ENSG00000213443 HNRNPABP1 LOC100419929 LOC255308 ENSG00000257027
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLRC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLRC2 Gene

Chromosome:
12
Start:
10,426,854 bp from pter
End:
10,442,300 bp from pter
Size:
15,447 bases
Orientation:
Minus strand

Genomic View for KLRC2 Gene

Genes around KLRC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLRC2 Gene

Proteins for KLRC2 Gene

  • Protein details for KLRC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26717-NKG2C_HUMAN
    Recommended name:
    NKG2-C type II integral membrane protein
    Protein Accession:
    P26717
    Secondary Accessions:
    • O43802
    • Q52M74
    • Q9NR42

    Protein attributes for KLRC2 Gene

    Size:
    231 amino acids
    Molecular mass:
    26072 Da
    Quaternary structure:
    • Can form disulfide-bonded heterodimer with CD94. Interacts with TYROBP.

    Three dimensional structures from OCA and Proteopedia for KLRC2 Gene

neXtProt entry for KLRC2 Gene

Post-translational modifications for KLRC2 Gene

  • Glycosylation at posLast=100100, posLast=149149, and posLast=178178

Other Protein References for KLRC2 Gene

No data available for DME Specific Peptides for KLRC2 Gene

Domains & Families for KLRC2 Gene

Gene Families for KLRC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KLRC2 Gene

Suggested Antigen Peptide Sequences for KLRC2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLRC2: view

No data available for UniProtKB/Swiss-Prot for KLRC2 Gene

Function for KLRC2 Gene

Molecular function for KLRC2 Gene

GENATLAS Biochemistry:
natural killer cell lectin-like receptor subfamily C,member 2
UniProtKB/Swiss-Prot Function:
Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.

Phenotypes From GWAS Catalog for KLRC2 Gene

Gene Ontology (GO) - Molecular Function for KLRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 9683661
GO:0005515 protein binding IPI 18448674
GO:0023024 MHC class I protein complex binding IPI 18448674
GO:0030246 carbohydrate binding IEA --
GO:1990405 protein antigen binding IDA 18448674
genes like me logo Genes that share ontologies with KLRC2: view
genes like me logo Genes that share phenotypes with KLRC2: view

Animal Model Products

CRISPR Products

miRNA for KLRC2 Gene

miRTarBase miRNAs that target KLRC2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KLRC2
  • Applied Biological Materials Clones for KLRC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLRC2 Gene

Localization for KLRC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRC2 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLRC2 gene
Compartment Confidence
plasma membrane 5
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8436421
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 18448674
genes like me logo Genes that share ontologies with KLRC2: view

Pathways & Interactions for KLRC2 Gene

genes like me logo Genes that share pathways with KLRC2: view

Gene Ontology (GO) - Biological Process for KLRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002228 natural killer cell mediated immunity IDA 18448674
GO:0006968 cellular defense response TAS 9683661
GO:0007165 signal transduction TAS 2007850
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with KLRC2: view

No data available for SIGNOR curated interactions for KLRC2 Gene

Drugs & Compounds for KLRC2 Gene

No Compound Related Data Available

Transcripts for KLRC2 Gene

Unigene Clusters for KLRC2 Gene

Killer cell lectin-like receptor subfamily C, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KLRC2
  • Applied Biological Materials Clones for KLRC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KLRC2 Gene

No ASD Table

Relevant External Links for KLRC2 Gene

GeneLoc Exon Structure for
KLRC2
ECgene alternative splicing isoforms for
KLRC2

Expression for KLRC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLRC2 Gene

mRNA differential expression in normal tissues according to GTEx for KLRC2 Gene

This gene is overexpressed in Brain - Amygdala (x5.2) and Brain - Substantia nigra (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of KLRC2 Gene:

KLRC2

SOURCE GeneReport for Unigene cluster for KLRC2 Gene:

Hs.591157

mRNA Expression by UniProt/SwissProt for KLRC2 Gene:

P26717-NKG2C_HUMAN
Tissue specificity: Natural killer cells.

Evidence on tissue expression from TISSUES for KLRC2 Gene

  • Liver(4)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with KLRC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRC2 Gene

Orthologs for KLRC2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC101058094 33
  • 97.11 (n)
KLRC2 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609192 33
  • 74.24 (n)
-- 34
  • 54 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 48 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 28 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Klre1 34
  • 24 (a)
ManyToMany
Species where no ortholog for KLRC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLRC2 Gene

ENSEMBL:
Gene Tree for KLRC2 (if available)
TreeFam:
Gene Tree for KLRC2 (if available)

Paralogs for KLRC2 Gene

Paralogs for KLRC2 Gene

Pseudogenes.org Pseudogenes for KLRC2 Gene

genes like me logo Genes that share paralogs with KLRC2: view

Variants for KLRC2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KLRC2 Gene

NKG2C_HUMAN-P26717
Two alleles are known. The sequence shown is that of allele NKG2-C*01.

Sequence variations from dbSNP and Humsavar for KLRC2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000733034 -- 10,434,142(+) TTGTG(C/T)TCCCA intron-variant
rs1002336991 -- 10,430,734(+) GAAAG(-/T)TTTCA utr-variant-3-prime
rs1005212643 -- 10,437,162(+) GCAAT(A/G)TTTGG upstream-variant-2KB
rs1005738016 -- 10,436,189(+) TATAA(C/T)TGGCA upstream-variant-2KB
rs1006808993 -- 10,433,907(+) ATATG(C/T)AATCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KLRC2 Gene

Variant ID Type Subtype PubMed ID
dgv171e201 CNV deletion 23290073
dgv2358n54 CNV loss 21841781
dgv2359n54 CNV loss 21841781
dgv2360n54 CNV loss 21841781
dgv250e214 CNV loss 21293372
dgv263e199 CNV deletion 23128226
dgv264e199 CNV deletion 23128226
dgv270n67 CNV loss 20364138
dgv451e212 CNV loss 25503493
dgv452e212 CNV loss 25503493
esv25005 CNV loss 19812545
esv2745535 CNV deletion 23290073
esv32543 CNV loss 17666407
esv3580103 CNV loss 25503493
esv3580111 CNV loss 25503493
esv3628535 CNV loss 21293372
esv3628538 CNV loss 21293372
esv3628539 CNV loss 21293372
esv3628540 CNV gain 21293372
esv3892136 CNV loss 25118596
esv3892138 CNV loss 25118596
esv4003 CNV loss 18987735
esv8275 CNV loss 19470904
nsv1036390 CNV loss 25217958
nsv1051292 CNV loss 25217958
nsv1070507 CNV deletion 25765185
nsv1138097 CNV deletion 24896259
nsv1147689 CNV duplication 26484159
nsv1148413 CNV deletion 26484159
nsv435631 CNV deletion 17901297
nsv442633 CNV loss 18776908
nsv514645 CNV gain 21397061
nsv521062 CNV gain 19592680
nsv557465 CNV gain 21841781
nsv557475 CNV loss 21841781
nsv557476 CNV loss 21841781
nsv606 CNV deletion 18451855
nsv832328 CNV gain 17160897
nsv8914 CNV loss 18304495
nsv975447 CNV duplication 23825009
nsv975448 CNV duplication 23825009
nsv983281 CNV duplication 23825009

Variation tolerance for KLRC2 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLRC2 Gene

Human Gene Mutation Database (HGMD)
KLRC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRC2

Disorders for KLRC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLRC2 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
trachoma
  • active stage trachoma
- elite association - COSMIC cancer census association via MalaCards
Search KLRC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLRC2

Genetic Association Database (GAD)
KLRC2
Human Genome Epidemiology (HuGE) Navigator
KLRC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLRC2
genes like me logo Genes that share disorders with KLRC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLRC2 Gene

Publications for KLRC2 Gene

  1. Molecular genetic analyses of human NKG2C (KLRC2) gene deletion. (PMID: 14688071) Miyashita R … Tokunaga K (International immunology 2004) 3 22 45 60
  2. Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion in the general population. (PMID: 12618865) Hikami K … Tokunaga K (Genes and immunity 2003) 3 22 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. The structural basis for intramembrane assembly of an activating immunoreceptor complex. (PMID: 20890284) Call ME … Chou JJ (Nature immunology 2010) 3 4 60
  5. Inhibitory NKG2A and activating NKG2D and NKG2C natural killer cell receptor genes: susceptibility for rheumatoid arthritis. (PMID: 18700876) Park KS … Song YW (Tissue antigens 2008) 3 45 60

Products for KLRC2 Gene

  • Addgene plasmids for KLRC2

Sources for KLRC2 Gene

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